Abstract
In dermatology, we may be confronted with severe combined immune deficiency syndromes. Early diagnosis and referral to specialized centers is crucial for the prognosis. We describe a girl aged 5 months at diagnosis with an Omenn syndrome due to an atypical severe combined immunodeficiency (SCID). Clinical manifestations were a dermatitis, a chronic, antibiotic-resistant respiratory tract infection and inflammatory bowel disease. Routine laboratory tests revealed mild lymphocytopenie with eosinophilia and elevated IgE. After inclusion in the national patient centered project Translate-NAMSE specialized immunological investigations diagnosed an atypical T (low) B (low) NK (+) SCID caused by hypomorphic homozygous IL7RA mutation and a curative haploidentic allogeneic hematopoetic stem cell transplantation was started.
Item Type: | Journal article |
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Faculties: | Medicine |
Subjects: | 600 Technology > 610 Medicine and health |
ISSN: | 0340-2541 |
Language: | German |
Item ID: | 79298 |
Date Deposited: | 15. Dec 2021, 14:47 |
Last Modified: | 15. Dec 2021, 14:47 |